782886007: syndroom van infantiele spasmen, motorische retardatie, progressieve hersenatrofie en basale ganglia-ziekte (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
\Disease\Metabolic disease\Metabolic disorder of transport\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3756553016 Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3756554010 Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

9908771000146113 syndroom van infantiele spasmen, motorische retardatie, progressieve hersenatrofie en basale ganglia-ziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9908781000146110 syndroom van infantiele spasmen, motorische retardatie, progressieve hersenatrofie en basale ganglia-ziekte (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3756555011 A rare genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy and bilateral thalamic and basal ganglia lesions. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3756556012 A rare genetic disorder of thiamine metabolism and transport characterised by infantile spasms progressing to symptomatic generalised or partial seizures, severe global developmental delay, progressive brain atrophy and bilateral thalamic and basal ganglia lesions. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Is a	Metabolic disorder of transport	true	Inferred relationship	Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Is a	Congenital neurological disorder (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3756553016	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756554010	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
9908771000146113	syndroom van infantiele spasmen, motorische retardatie, progressieve hersenatrofie en basale ganglia-ziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9908781000146110	syndroom van infantiele spasmen, motorische retardatie, progressieve hersenatrofie en basale ganglia-ziekte (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3756555011	A rare genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy and bilateral thalamic and basal ganglia lesions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756556012	A rare genetic disorder of thiamine metabolism and transport characterised by infantile spasms progressing to symptomatic generalised or partial seizures, severe global developmental delay, progressive brain atrophy and bilateral thalamic and basal ganglia lesions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core